Deep Brain Stimulation for a DYT-TOR1A Variant Presenting with Rapidly Progressive Refractory Status Dystonicus in a 3-year-old
Matthew Somerville1, Hadley Ressler1, Aubrey Hite1, Leah Chapman1, Jared Kaplan2, Audrey Hunt1, Jennifer Harmon1, Jessica Tate1, Daniel Couture2, Jaclyn Martindale1
1Neurology, 2Neurosurgery, Wake Forest University School of Medicine
Objective:
DYT-TOR1A is one of the most common genetic etiologies of pediatric dystonia, typically presenting in adolescents with appendicular dystonia that generalizes over months to years.
Background:
Our patient is an ex-29-week premature infant secondary to placenta accreta and cervical insufficiency with an uncomplicated NICU course. He was diagnosed with language and fine motor delays and Autism Spectrum Disorder Level 3 (age 2.5). At age 2, he lost the ability to hold utensils and began toe-walking at age 2.5. At age 3.5, he developed lower extremity dystonia, which rapidly generalized (e.g., he dragged himself across the floor with his arms). Verbalizations included “ow” and “help me” due to pain. He failed an outpatient carbidopa-levodopa trial for one month and progressed to status dystonicus with maximum creatine kinase of 638 U/L and lactate of 3.5 mmol/L. Extensive work-up revealed a maternally inherited pathogenic variant in TOR1A, c.907_909del (p.Glu303del) with family pedigree (Figure 1). He failed several medications and required continuous infusions (Table 1) to manage symptoms. He responded well to a baclofen injection, leading to an intrathecal baclofen pump placement, but only attained temporary relief despite dose optimization. Expressive language improved with baclofen, raising the question of language impairment due to vocal dystonia. Ultimately, he had bilateral globus pallidus interna (GPi) deep brain stimulation (DBS) placed (Figure 2), which has provided benefits and allowed him to be weaned off continuous medications.
Results:
Status dystonicus is a relatively rare pediatric movement disorder requiring emergency treatment, and early genetic testing. This case illustrates challenges to providing anticipatory guidance and treatment expectations in complex, treatment-refractory TOR1A status dystonicus with an atypical presentation. Using bilateral GPi DBS to treat symptoms required unique planning considerations and weighing factors influencing expected outcomes.
Conclusions:
TOR1A should be considered in the differential diagnosis of status dystonicus, even at a young age.
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